Term Name: | myofibrillar myopathy 2 |
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Synonyms: | alpha-b crystallinopathy |
Definition: | A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. |
Ontology: | Human Disease [DOID:0080093] ( DOID:0080093 ) |